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Center for Computational Systems Medicine
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FusionGeneSummary

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FusionProtFeature

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FusionGeneSequence

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FusionGenePPI

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RelatedDrugs

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RelatedDiseases

Fusion gene ID: 3853

FusionGeneSummary for BAZ1A_NKX2-1

check button Fusion gene summary
Fusion gene informationFusion gene name: BAZ1A_NKX2-1
Fusion gene ID: 3853
HgeneTgene
Gene symbol

BAZ1A

NKX2-1

Gene ID

11177

7080

Gene namebromodomain adjacent to zinc finger domain 1ANK2 homeobox 1
SynonymsACF1|WALp1|WCRF180|hACF1BCH|BHC|NK-2|NKX2.1|NKX2A|NMTC1|T/EBP|TEBP|TITF1|TTF-1|TTF1
Cytomap

14q13.1-q13.2

14q13.3

Type of geneprotein-codingprotein-coding
Descriptionbromodomain adjacent to zinc finger domain protein 1AATP-dependent chromatin remodeling proteinATP-utilizing chromatin assembly and remodeling factor 1CHRAC subunit ACF1hWALp1williams syndrome transcription factor-related chromatin-remodeling factor homeobox protein Nkx-2.1NK-2 homolog Ahomeobox protein NK-2 homolog Athyroid nuclear factor 1thyroid transcription factor 1thyroid-specific enhancer-binding protein
Modification date2018051920180519
UniProtAcc

Q9NRL2

P43699

Ensembl transtripts involved in fusion geneENST00000358716, ENST00000382422, 
ENST00000360310, ENST00000553853, 
ENST00000354822, ENST00000498187, 
ENST00000518149, ENST00000522719, 
Fusion gene scores* DoF score5 X 4 X 3=601 X 1 X 1=1
# samples 51
** MAII scorelog2(5/60*10)=-0.263034405833794
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(1/1*10)=3.32192809488736
Context

PubMed: BAZ1A [Title/Abstract] AND NKX2-1 [Title/Abstract] AND fusion [Title/Abstract]

Functional or gene categories assigned by FusionGDB annotation
* DoF score (Degree of Frequency) = # partners X # break points X # cancer types
** MAII score (Major Active Isofusion Index) = log2(# samples/DoF score*10)

check button Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez
PartnerGeneGO IDGO termPubMed ID
HgeneBAZ1A

GO:0006261

DNA-dependent DNA replication

12434153

TgeneNKX2-1

GO:0000122

negative regulation of transcription by RNA polymerase II

23143308

TgeneNKX2-1

GO:0010628

positive regulation of gene expression

16960125

TgeneNKX2-1

GO:0010719

negative regulation of epithelial to mesenchymal transition

19293183

TgeneNKX2-1

GO:0030336

negative regulation of cell migration

19293183

TgeneNKX2-1

GO:0030512

negative regulation of transforming growth factor beta receptor signaling pathway

19293183

TgeneNKX2-1

GO:0045893

positive regulation of transcription, DNA-templated

14960358

TgeneNKX2-1

GO:0045944

positive regulation of transcription by RNA polymerase II

7559607|7713914|16960125


check button Fusion gene information from three resources
(ChiTars (NAR, 2018), tumorfusions (NAR, 2018), Gao et al. (Cell, 2018))
* All genome coordinats were lifted-over on hg19.
* Click on the break point to see the gene structure around the break point region using the UCSC Genome Browser.
Data typeSourceCancer typeSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand
TCGARVLUADTCGA-L9-A444-01ABAZ1Achr14

35331250

-NKX2-1chr14

36988575

-
* LD: Li Ding group's fusion gene list
  RV: Roel Verhaak group's fusion gene list
  ChiTaRs fusion database

check button Open reading frame (ORF) analsis of fusion genes based on Ensembl gene isoform structure.
* Click on the break point to see the gene structure around the break point region using the UCSC Genome Browser.
ORFHenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrand
Frame-shitENST00000358716ENST00000354822BAZ1Achr14

35331250

-NKX2-1chr14

36988575

-
5CDS-5UTRENST00000358716ENST00000498187BAZ1Achr14

35331250

-NKX2-1chr14

36988575

-
5CDS-5UTRENST00000358716ENST00000518149BAZ1Achr14

35331250

-NKX2-1chr14

36988575

-
5CDS-5UTRENST00000358716ENST00000522719BAZ1Achr14

35331250

-NKX2-1chr14

36988575

-
In-frameENST00000382422ENST00000354822BAZ1Achr14

35331250

-NKX2-1chr14

36988575

-
5CDS-5UTRENST00000382422ENST00000498187BAZ1Achr14

35331250

-NKX2-1chr14

36988575

-
5CDS-5UTRENST00000382422ENST00000518149BAZ1Achr14

35331250

-NKX2-1chr14

36988575

-
5CDS-5UTRENST00000382422ENST00000522719BAZ1Achr14

35331250

-NKX2-1chr14

36988575

-
Frame-shitENST00000360310ENST00000354822BAZ1Achr14

35331250

-NKX2-1chr14

36988575

-
5CDS-5UTRENST00000360310ENST00000498187BAZ1Achr14

35331250

-NKX2-1chr14

36988575

-
5CDS-5UTRENST00000360310ENST00000518149BAZ1Achr14

35331250

-NKX2-1chr14

36988575

-
5CDS-5UTRENST00000360310ENST00000522719BAZ1Achr14

35331250

-NKX2-1chr14

36988575

-
5UTR-3CDSENST00000553853ENST00000354822BAZ1Achr14

35331250

-NKX2-1chr14

36988575

-
5UTR-5UTRENST00000553853ENST00000498187BAZ1Achr14

35331250

-NKX2-1chr14

36988575

-
5UTR-5UTRENST00000553853ENST00000518149BAZ1Achr14

35331250

-NKX2-1chr14

36988575

-
5UTR-5UTRENST00000553853ENST00000522719BAZ1Achr14

35331250

-NKX2-1chr14

36988575

-

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FusionProtFeatures for BAZ1A_NKX2-1


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
BAZ1A

Q9NRL2

NKX2-1

P43699

Component of the ACF complex, an ATP-dependent chromatinremodeling complex, that regulates spacing of nucleosomes usingATP to generate evenly spaced nucleosomes along the chromatin. TheATPase activity of the complex is regulated by the length offlanking DNA. Also involved in facilitating the DNA replicationprocess. BAZ1A is the accessory, non-catalytic subunit of thecomplex which can enhance and direct the process provided by theATPase subunit, SMARCA5, probably through targetingpericentromeric heterochromatin in late S phase. Moves end-positioned nucleosomes to a predominantly central position. Mayhave a role in nuclear receptor-mediated transcription repression. Component of the histone-fold protein complex CHRACcomplex which facilitates nucleosome sliding by the ACF complexand enhances ACF-mediated chromatin assembly. The C-terminalregions of both CHRAC1 and POLE1 are required for these functions. Transcription factor that binds and activates thepromoter of thyroid specific genes such as thyroglobulin,thyroperoxidase, and thyrotropin receptor. Crucial in themaintenance of the thyroid differentiation phenotype. May play arole in lung development and surfactant homeostasis. Forms aregulatory loop with GRHL2 that coordinates lung epithelial cellmorphogenesis and differentiation. Activates the transcription ofGNRHR and plays a role in enhancing the circadian oscillation ofits gene expression. Represses the transcription of the circadiantranscriptional repressor NR1D1 (By similarity).{ECO:0000250|UniProtKB:P23441, ECO:0000250|UniProtKB:P50220}.

check buttonRetention analysis result of each fusion partner protein across 39 protein features of UniProt such as six molecule processing features, 13 region features, four site features, six amino acid modification features, two natural variation features, five experimental info features, and 3 secondary structure features. Here, because of limited space for viewing, we only show the protein feature retention information belong to the 13 regional features. All retention annotation result can be downloaded at

download page

.

* Minus value of BPloci means that the break pointn is located before the CDS.
- In-frame and retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note


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FusionGeneSequence for BAZ1A_NKX2-1


check button For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences.
(nt: nucleotides, aa: amino acids)

* Fusion amino acid sequences.
>In-frame_BAZ1A_ENST00000382422_chr14_35331250_-_NKX2-1_ENST00000354822_chr14_36988575_-_507aa
MPLLHRKPFVRQKPPADLRPDEEVFYCKVTNEIFRHYDDFFERTILCNSLVWSCAVTGRPGLTTQEALESEKKARQNLQSFPEPLIIPVL
YLTSLTHRSRLHEICDDIFATVKDRTFVEETVEVIRNNGASRRRIMSMSPKHTTPFSVSDILSPLEESYKKVGMEGGGLGAPLAAYRQGQ
AAPPTAAMQQHAVGHHGAVTAAYHMTAAGVPQLSHSAVGGYCNGNLGNMSELPPYQDTMRNSASGPGWYGANPDPRFPAISRFMGPASGM
NMSGMGGLGSLGDVSKNMAPLPSAPRRKRRVLFSQAQVYELERRFKQQKYLSAPEREHLASMIHLTPTQVKIWFQNHRYKMKRQAKDKAA
QQQLQQDSGGGGGGGGTGCPQQQQAQQQSPRRVAVPVLVKDGKPCQAGAPAPGAASLQGHAQQQAQHQAQAAQAAAAAISVGSGGAGLGA


* Fusion transcript sequences (only coding sequence (CDS) region).
>In-frame_BAZ1A_ENST00000382422_chr14_35331250_-_NKX2-1_ENST00000354822_chr14_36988575_-_1521nt
ATGCCGCTGCTACACCGAAAGCCGTTTGTGAGACAGAAGCCGCCCGCGGACCTGCGGCCCGACGAGGAAGTTTTCTACTGTAAAGTCACC
AACGAGATCTTCCGCCACTACGATGACTTTTTTGAACGAACCATTCTGTGCAACAGCCTTGTGTGGAGTTGTGCTGTGACGGGTAGACCT
GGACTGACGTATCAGGAAGCACTTGAGTCAGAAAAAAAAGCAAGACAGAATCTTCAGAGTTTTCCAGAACCACTAATTATTCCAGTTTTA
TACTTGACCAGCCTTACCCATCGTTCGCGCTTACATGAAATTTGTGATGATATCTTTGCATATGTCAAGGATCGATATTTTGTCGAAGAA
ACTGTGGAAGTCATTAGGAACAATGGTGCAAGCCGCCGCCGAATCATGTCGATGAGTCCAAAGCACACGACTCCGTTCTCAGTGTCTGAC
ATCTTGAGTCCCCTGGAGGAAAGCTACAAGAAAGTGGGCATGGAGGGCGGCGGCCTCGGGGCTCCGCTGGCGGCGTACAGGCAGGGCCAG
GCGGCACCGCCAACAGCGGCCATGCAGCAGCACGCCGTGGGGCACCACGGCGCCGTCACCGCCGCCTACCACATGACGGCGGCGGGGGTG
CCCCAGCTCTCGCACTCCGCCGTGGGGGGCTACTGCAACGGCAACCTGGGCAACATGAGCGAGCTGCCGCCGTACCAGGACACCATGAGG
AACAGCGCCTCTGGCCCCGGATGGTACGGCGCCAACCCAGACCCGCGCTTCCCCGCCATCTCCCGCTTCATGGGCCCGGCGAGCGGCATG
AACATGAGCGGCATGGGCGGCCTGGGCTCGCTGGGGGACGTGAGCAAGAACATGGCCCCGCTGCCAAGCGCGCCGCGCAGGAAGCGCCGG
GTGCTCTTCTCGCAGGCGCAGGTGTACGAGCTGGAGCGACGCTTCAAGCAACAGAAGTACCTGTCGGCGCCGGAGCGCGAGCACCTGGCC
AGCATGATCCACCTGACGCCCACGCAGGTCAAGATCTGGTTCCAGAACCACCGCTACAAAATGAAGCGCCAGGCCAAGGACAAGGCGGCG
CAGCAGCAACTGCAGCAGGACAGCGGCGGCGGCGGGGGCGGCGGGGGCACCGGGTGCCCGCAGCAGCAACAGGCTCAGCAGCAGTCGCCG
CGACGCGTGGCGGTGCCGGTCCTGGTGAAAGACGGCAAACCGTGCCAGGCGGGTGCCCCCGCGCCGGGCGCCGCCAGCCTACAAGGCCAC
GCGCAGCAGCAGGCGCAGCACCAGGCGCAGGCCGCGCAGGCGGCGGCAGCGGCCATCTCCGTGGGCAGCGGTGGCGCCGGCCTTGGCGCA
CACCCGGGCCACCAGCCAGGCAGCGCAGGCCAGTCTCCGGACCTGGCGCACCACGCCGCCAGCCCCGCGGCGCTGCAGGGCCAGGTATCC


* Fusion transcript sequences (Full-length transcript).
>In-frame_BAZ1A_ENST00000382422_chr14_35331250_-_NKX2-1_ENST00000354822_chr14_36988575_-_2730nt
CCCGCACTGCCCCCCGCGGCGGGGCGTCCTGCCCCATTGTGAGGCGGCGGCAGGACGAGAGGAGGTAGGGCGCGCTCGGGGGGCAGGGGC
GGCGGCGGCTCCGCTCGCTCGACACCCGGGCAGCGGCAGGAACGAACTCGGCTCCGGTAGCGGCCGCGGCGCGTCAGTCACACAAAAGGC
AGCCGAGCTTCTCCCAGCGCGCGGACCGGCCCACGCTGCCGCCGAGGGCTCCCCACCTTACCGGCTTTCCTTTCCCTCCAATTTTGATAG
GGAAGCGGGGCCGGCGCGGGCGGCCGAGGGTCCAGGCGAGCCCGCGGGCGGACGGGAGATGCCGCTGCTACACCGAAAGCCGTTTGTGAG
ACAGAAGCCGCCCGCGGACCTGCGGCCCGACGAGGAAGTTTTCTACTGTAAAGTCACCAACGAGATCTTCCGCCACTACGATGACTTTTT
TGAACGAACCATTCTGTGCAACAGCCTTGTGTGGAGTTGTGCTGTGACGGGTAGACCTGGACTGACGTATCAGGAAGCACTTGAGTCAGA
AAAAAAAGCAAGACAGAATCTTCAGAGTTTTCCAGAACCACTAATTATTCCAGTTTTATACTTGACCAGCCTTACCCATCGTTCGCGCTT
ACATGAAATTTGTGATGATATCTTTGCATATGTCAAGGATCGATATTTTGTCGAAGAAACTGTGGAAGTCATTAGGAACAATGGTGCAAG
CCGCCGCCGAATCATGTCGATGAGTCCAAAGCACACGACTCCGTTCTCAGTGTCTGACATCTTGAGTCCCCTGGAGGAAAGCTACAAGAA
AGTGGGCATGGAGGGCGGCGGCCTCGGGGCTCCGCTGGCGGCGTACAGGCAGGGCCAGGCGGCACCGCCAACAGCGGCCATGCAGCAGCA
CGCCGTGGGGCACCACGGCGCCGTCACCGCCGCCTACCACATGACGGCGGCGGGGGTGCCCCAGCTCTCGCACTCCGCCGTGGGGGGCTA
CTGCAACGGCAACCTGGGCAACATGAGCGAGCTGCCGCCGTACCAGGACACCATGAGGAACAGCGCCTCTGGCCCCGGATGGTACGGCGC
CAACCCAGACCCGCGCTTCCCCGCCATCTCCCGCTTCATGGGCCCGGCGAGCGGCATGAACATGAGCGGCATGGGCGGCCTGGGCTCGCT
GGGGGACGTGAGCAAGAACATGGCCCCGCTGCCAAGCGCGCCGCGCAGGAAGCGCCGGGTGCTCTTCTCGCAGGCGCAGGTGTACGAGCT
GGAGCGACGCTTCAAGCAACAGAAGTACCTGTCGGCGCCGGAGCGCGAGCACCTGGCCAGCATGATCCACCTGACGCCCACGCAGGTCAA
GATCTGGTTCCAGAACCACCGCTACAAAATGAAGCGCCAGGCCAAGGACAAGGCGGCGCAGCAGCAACTGCAGCAGGACAGCGGCGGCGG
CGGGGGCGGCGGGGGCACCGGGTGCCCGCAGCAGCAACAGGCTCAGCAGCAGTCGCCGCGACGCGTGGCGGTGCCGGTCCTGGTGAAAGA
CGGCAAACCGTGCCAGGCGGGTGCCCCCGCGCCGGGCGCCGCCAGCCTACAAGGCCACGCGCAGCAGCAGGCGCAGCACCAGGCGCAGGC
CGCGCAGGCGGCGGCAGCGGCCATCTCCGTGGGCAGCGGTGGCGCCGGCCTTGGCGCACACCCGGGCCACCAGCCAGGCAGCGCAGGCCA
GTCTCCGGACCTGGCGCACCACGCCGCCAGCCCCGCGGCGCTGCAGGGCCAGGTATCCAGCCTGTCCCACCTGAACTCCTCGGGCTCGGA
CTACGGCACCATGTCCTGCTCCACCTTGCTATACGGTCGGACCTGGTGAGAGGACGCCGGGCCGGCCCTAGCCCAGCGCTCTGCCTCACC
GCTTCCCTCCTGCCCGCCACACAGACCACCATCCACCGCTGCTCCACGCGCTTCGACTTTTCTTAACAACCTGGCCGCGTTTAGACCAAG
GAACAAAAAAACCACAAAGGCCAAACTGCTGGACGTCTTTCTTTTTTTCCCCCCCTAAAATTTGTGGGTTTTTTTTTTTAAAAAAAGAAA
ATGAAAAACAACCAAGCGCATCCAATCTCAAGGAATCTTTAAGCAGAGAAGGGCATAAAACAGCTTTGGGGTGTCTTTTTTTGGTGATTC
AAATGGGTTTTCCACGCTAGGGCGGGGCACAGATTGGAGAGGGCTCTGTGCTGACATGGCTCTGGACTCTAAAGACCAAACTTCACTCTG
GGCACACTCTGCCAGCAAAGAGGACTCGCTTGTAAATACCAGGATTTTTTTTTTTTTTTGAAGGGAGGACGGGAGCTGGGGAGAGGAAAG
AGTCTTCAACATAACCCACTTGTCACTGACACAAAGGAAGTGCCCCCTCCCCGGCACCCTCTGGCCGCCTAGGCTCAGCGGCGACCGCCC
TCCGCGAAAATAGTTTGTTTAATGTGAACTTGTAGCTGTAAAACGCTGTCAAAAGTTGGACTAAATGCCTAGTTTTTAGTAATCTGTACA
TTTTGTTGTAAAAAGAAAAACCACTCCCAGTCCCCAGCCCTTCACATTTTTTATGGGCATTGACAAATCTGTGTATATTATTTGGCAGTT
TGGTATTTGCGGCGTCAGTCTTTTTCTGTTGTAACTTATGTAGATATTTGGCTTAAATATAGTTCCTAAGAAGCTTCTAATAAATTATAC


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FusionGenePPI for BAZ1A_NKX2-1


check button Go to ChiPPI (Chimeric Protein-Protein interactions) to see the chimeric PPI interaction in

ChiPPI page

.

check button Protein-protein interactors with each fusion partner protein in wild-type (BIOGRID-3.4.160)
HgeneHgene's interactorsTgeneTgene's interactors
BAZ1ASMARCA5, POLE3, BAZ1B, SATB1, SMARCA2, CHRAC1, NCOR1, XRCC5, XRCC6, SMARCAD1, ELAVL1, GRK5, RBBP4, SMAD9, SMAD2, CCDC8, SUMO2, SRPK2, RHOA, CCDC22, UGGT1, MAX, TEAD2, FOXE1, HIST1H4A, H2AFX, HIST1H3A, HIST1H2BB, FOXL1, BMI1, CAPN6, MECP2, MTNR1ANKX2-1RARA, NCOA2, HIPK2, PTRF, NCOA3, CREBBP, RELA, PAX8, CALR, NCOA1, HOXB5


check button - Retained PPIs in in-frame fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenStill interaction with


check button - Lost PPIs in in-frame fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


check button - Retained PPIs, but lost function due to frame-shift fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


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RelatedDrugs for BAZ1A_NKX2-1


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status

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RelatedDiseases for BAZ1A_NKX2-1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneNKX2-1C0019284Diaphragmatic Hernia2CTD_human
TgeneNKX2-1C0393584Benign Hereditary Chorea2ORPHANET;UNIPROT
TgeneNKX2-1C1970269Choreoathetosis, Hypothyroidism, And Neonatal Respiratory Distress2CTD_human;ORPHANET;UNIPROT
TgeneNKX2-1C0024115Lung diseases1CTD_human
TgeneNKX2-1C0238463Papillary thyroid carcinoma1ORPHANET;UNIPROT